Mechanisms of disease in hereditary sensory and autonomic neuropathies (Q34249122)

31 July 2017

Mechanisms of disease in hereditary sensory and autonomic neuropathies (English)

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31 July 2017

Annelies Rotthier

1

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31 July 2017

Jonathan Baets

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2

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31 July 2017

Vincent Timmerman

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3

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31 July 2017

Katrien Janssens

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4

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31 July 2017

language of work or name

English

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publication date

24 January 2012

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31 July 2017

Nature Reviews Neurology

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31 July 2017

8

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31 July 2017

2

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31 July 2017

73-85

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https://scigraph.springernature.com/pub.10.1038/nrneurol.2011.227

31 July 2017

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cites work

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

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Hereditary sensory neuropathy type I

21 January 2018

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Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

21 January 2018

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Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

21 January 2018

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A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.

21 January 2018

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Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.

21 January 2018

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SPTLC1 is mutated in hereditary sensory neuropathy, type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Lipid rafts in neuronal signaling and function.

21 January 2018

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Principles of bioactive lipid signalling: lessons from sphingolipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Lipid rafts and the control of neurotrophic factor signaling in the nervous system: variations on a theme

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Ceramide, a putative second messenger for nerve growth factor, modulates the TTX-resistant Na(+) current and delayed rectifier K(+) current in rat sensory neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Sphingosine-1-phosphate via activation of a G-protein-coupled receptor(s) enhances the excitability of rat sensory neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Cellular Localization, Oligomerization, and Membrane Association of the Hereditary Spastic Paraplegia 3A (SPG3A) Protein Atlastin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

A class of dynamin-like GTPases involved in the generation of the tubular ER network

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Role of Rab GTPases in membrane traffic and cell physiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Rab7: a key to lysosome biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Phagosomes fuse with late endosomes and/or lysosomes by extension of membrane protrusions along microtubules: role of Rab7 and RILP

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Rab7 is required for the normal progression of the autophagic pathway in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Regulation of retromer recruitment to endosomes by sequential action of Rab5 and Rab7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Rab5 and Rab7 control endocytic sorting along the axonal retrograde transport pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

CAR-associated vesicular transport of an adenovirus in motor neuron axons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

CMT2B-associated Rab7 mutants inhibit neurite outgrowth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Epigenetic modifications and human disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Changes of DNA methylation level during pre- and postnatal periods in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Hereditary sensory and autonomic neuropathies: types II, III, and IV

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

WNK1 and OSR1 regulate the Na+, K+, 2Cl- cotransporter in HeLa cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

WNK kinases influence TRPV4 channel function and localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

21 January 2018

Familial dysautonomia

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Familial dysautonomia is caused by mutations of the IKAP gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Elongator is a histone H3 and H4 acetyltransferase important for normal histone acetylation levels in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Microtubule acetylation promotes kinesin-1 binding and transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

21 January 2018

2 references

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

21 January 2018

12 December 2020

An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Expanded HSAN4 phenotype associated with two novel mutations in NTRK1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Nerve growth factor: from neurotrophin to neurokine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Impaired neurotrophin-3 signaling in a TrkAII mutant associated with hereditary polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

An alternatively spliced form of the nerve growth factor receptor TrkA confers an enhanced response to neurotrophin 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Role of neurotrophin signalling in the differentiation of neurons from dorsal root ganglia and sympathetic ganglia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Unraveling the story of NGF-mediated sensitization of nociceptive sensory neurons: ON or OFF the Trks?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

In vitro receptor binding properties of a "painless" NGF mutein, linked to hereditary sensory autonomic neuropathy type V.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Taking pain out of NGF: a "painless" NGF mutant, linked to hereditary sensory autonomic neuropathy type V, with full neurotrophic activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Cytosolic chaperonin-containing t-complex polypeptide 1 changes the content of a particular subunit species concomitant with substrate binding and folding activities during the cell cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Cystosolic chaperonin subunits have a conserved ATPase domain but diverged polypeptide-binding domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Serine palmitoyl-CoA transferase (SPT) deficiency and sphingolipid levels in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Loss of spastic paraplegia gene atlastin induces age-dependent death of dopaminergic neurons in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Targeted mutation of the DNA methyltransferase gene results in embryonic lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Mice lacking nerve growth factor display perinatal loss of sensory and sympathetic neurons yet develop basal forebrain cholinergic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Elongator, a Multisubunit Component of a Novel RNA Polymerase II Holoenzyme for Transcriptional Elongation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Autosomal recessive hereditary sensory neuropathy with spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Novel Pathogenic Mechanisms of Congenital Insensitivity to Pain with Anhidrosis Genetic Disorder Unveiled by Functional Analysis of Neurotrophic Tyrosine Receptor Kinase Type 1/Nerve Growth Factor Receptor Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Mutation in FAM134B causing severe hereditary sensory neuropathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Chasing a disease to the vanishing point

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.227

Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.

31 March 2020

1 reference

12 December 2020

A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

1 reference

12 December 2020

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

1 reference

12 December 2020

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism

1 reference

12 December 2020

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

1 reference

12 December 2020

Tissue-specific alternative splicing generates two isoforms of the trkA receptor.

1 reference

12 December 2020

10.1038/NRNEUROL.2011.227

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1 reference

Dimensions Publication ID

31 July 2017

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